Canonical Allele Identifier: CA834864141

Gene: CNTNAP2

Linked Data

• dbSNP Id: rs138030325
• gnomAD v3: 7-147491630-G-C
• gnomAD v4: 7-147491630-G-C
• MyVariant Identifiers: chr7:g.147188722G>C (hg19) ; chr7:g.147491630G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147491630G>C , CM000669.2:g.147491630G>C	GRCh38
NC_000007.13:g.147188722G>C , CM000669.1:g.147188722G>C	GRCh37
NC_000007.12:g.146819655G>C	NCBI36
NG_007092.2:g.1380270G>C
NG_007092.3:g.1380630G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000361727.8:c.1777+5589G>C MANE Select	ENSP00000354778.3:n.1777+5589G>C
ENST00000636870.1:n.1639+5589G>C
ENST00000637694.1:n.1681-4991G>C
ENST00000637825.1:n.1260+5589G>C
ENST00000638117.1:n.1680+5589G>C
ENST00000361727.7:c.1777+5589G>C	ENSP00000354778.3:n.1777+5589G>C
NM_014141.5:c.1777+5589G>C	NP_054860.1:n.1777+5589G>C
XM_006715919.1:c.265+5589G>C	XP_006715982.1:n.265+5589G>C
XM_017011950.2:c.1777+5589G>C	XP_016867439.1:n.1777+5589G>C
NM_014141.6:c.1777+5589G>C MANE Select	NP_054860.1:n.1777+5589G>C